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AKR7A2 | Aflatoxin B1 aldehyde reductase member 2; Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2- nitrobenzaldehyde and pyridine-2-aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10-phenanthrenequinone (in vitro). Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protect [...] (359 aa) | |||
APOA1 | Apolipoprotein A-I; Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility; Apolipoproteins (267 aa) | |||
APOE | Apolipoprotein E; Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues; Apolipoproteins (317 aa) | |||
SCARB1 | Scavenger receptor class B member 1; Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells. Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux. Also facilitates the flux of free and esterified cholesterol between the cell surface and apoB-containing lipoproteins and modified lipoproteins, although less efficiently than HDL. May be involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity; Scavenger receptors (509 aa) | |||
MCOLN1 | Mucolipin-1; Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy. Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By simil [...] (580 aa) | |||
FLT1 | Vascular endothelial growth factor receptor 1; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFB and PGF, and plays an essential role in the development of embryonic vasculature, the regulation of angiogenesis, cell survival, cell migration, macrophage function, chemotaxis, and cancer cell invasion. May play an essential role as a negative regulator of embryonic angiogenesis by inhibiting excessive proliferation of endothelial cells. Can promote endothelial cell proliferation, survival and angiogenesis in adulthood. Its function in promoting cell proliferati [...] (1338 aa) | |||
ATP1B3 | Sodium/potassium-transporting ATPase subunit beta-3; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known; ATPase Na+/K+ transporting subunits (279 aa) | |||
KCNAB3 | Voltage-gated potassium channel subunit beta-3; Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters the functional properties of Kv1.5; Aldo-keto reductases (404 aa) | |||
GBA | Glucosylceramidase beta (536 aa) | |||
SFTPC | Pulmonary surfactant-associated protein C; Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces; BRICHOS domain containing (197 aa) | |||
BTNL3 | Butyrophilin-like protein 3; V-set domain containing; Butyrophilins (466 aa) | |||
CLDN7 | Claudin-7; Plays a major role in tight junction-specific obliteration of the intercellular space; Belongs to the claudin family (211 aa) | |||
AKR7A3 | Aflatoxin B1 aldehyde reductase member 3; Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen; Aldo-keto reductases (331 aa) | |||
APOA2 | Apolipoprotein A-II; May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism; Apolipoproteins (100 aa) | |||
MCOLN3 | Mucolipin-3; Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity. Mediates release of Ca(2+) from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway. Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle grow [...] (553 aa) | |||
MCOLN2 | Mucolipin-2; Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)- permeable cation channel with inwardly rectifying activity. May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6-regulated recycling pathway. May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine se [...] (566 aa) | |||
HLA-C | HLA class I histocompatibility antigen, Cw-7 alpha chain; Involved in the presentation of foreign antigens to the immune system; Belongs to the MHC class I family (366 aa) | |||
KCNAB2 | Voltage-gated potassium channel subunit beta-2; Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits. Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore. Promotes KCNA4 channel closure. Modulates the functional properties of KCNA5 [...] (415 aa) | |||
CARS | Cysteine--tRNA ligase, cytoplasmic; Aminoacyl tRNA synthetases, Class I; Belongs to the class-I aminoacyl-tRNA synthetase family (831 aa) | |||
EEF1B2 | Elongation factor 1-beta; EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP (225 aa) | |||
PRMT2 | Protein arginine N-methyltransferase 2; Arginine methyltransferase that methylates the guanidino nitrogens of arginyl residues in proteins such as STAT3, FBL, histone H4. Acts as a coactivator (with NCOA2) of the androgen receptor (AR)-mediated transactivation. Acts as a coactivator (with estrogen) of estrogen receptor (ER)-mediated transactivation. Enhances PGR, PPARG, RARA-mediated transactivation. May inhibit NF-kappa-B transcription and promote apoptosis. Represses E2F1 transcriptional activity (in a RB1- dependent manner). May be involved in growth regulation; Belongs to the class [...] (433 aa) | |||
PEX5 | Peroxisomal targeting signal 1 receptor; Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import (660 aa) | |||
PDZK1 | Na(+)/H(+) exchange regulatory cofactor NHE-RF3; A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resista [...] (519 aa) | |||
TANGO2 | Transport and golgi organization 2 homolog (317 aa) | |||
EEF1D | Elongation factor 1-delta; Isoform 1- EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP, regenerating EF-1- alpha for another round of transfer of aminoacyl-tRNAs to the ribosome; Belongs to the EF-1-beta/EF-1-delta family (647 aa) | |||
KCNAB1 | Voltage-gated potassium channel subunit beta-1; Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits. Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members. Promotes the clos [...] (419 aa) |